Richieri-costa/guion-almeida syndrome

Preferred Label : Richieri-costa/guion-almeida syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Short stature, mental retardation, eye anomalies, and cleft lip/palate; Sao paulo mca/mr syndrome;

Description : The Richieri-Costa/Guion-Almeida syndrome is characterized by mild mental retardation, short stature, microbrachycephaly, ptosis, esotropia, cleft lip/palate.;

Inheritance : ?Autosomal recessive;

Prefixed ID : %268850;

Details

Origin ID

268850;

UMLS CUI

C0796142;

Automatic exact mappings (from CISMeF team)
- Microbrachycephaly-ptosis-cleft lip syndrome [ORDO Disease]
- Richieri Costa Guion-Almeida syndrome [MeSH concept]
- richieri costa Guion-Almeida syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Sao Paulo MCA-MR Syndrome [MeSH concept]
- Sao Paulo MCA-MR Syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal digit morphology [HPO term]
- Autism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bitemporal narrowing [HPO term]
- Brachycephaly [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Deeply set eye [HPO term]
- Downslanted palpebral fissures [HPO term]
- Esotropia [HPO term]
- Excessive wrinkled skin (palms and soles) [HPO term]
- Eyelid coloboma [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Iris coloboma [HPO term]
- Long face [HPO term]
- Long, thin face [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Microbrachycephaly [HPO term]
- Microcephaly [HPO term]
- Narrow face [HPO term]
- Narrow forehead [HPO term]
- Nystagmus [HPO term]
- Palmoplantar cutis laxa [HPO term]
- Pectus excavatum [HPO term]
- Prominent supraorbital ridges [HPO term]
- Ptosis [HPO term]
- Short stature [HPO term]
- Spina bifida occulta [HPO term]
- Strabismus [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
ORDO concept(s)
- Microbrachycephaly-ptosis-cleft lip syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sao Paulo MCA-MR Syndrome [MeSH Supplementary Concept]
- Sao Paulo MCA-MR Syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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